Variant report

Variant	rs365504
Chromosome Location	chr3:137786093-137786094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs1107422	0.92[ASN][1000 genomes]
rs11719358	0.86[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs13100360	0.89[ASN][1000 genomes]
rs1444577	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1444578	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1545816	0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1564496	0.83[ASN][1000 genomes]
rs17838821	0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs179282	0.87[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2170309	0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2246945	0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2589259	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2589260	0.83[EUR][1000 genomes]
rs2622697	0.83[ASN][1000 genomes]
rs2622704	0.94[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2622705	0.94[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2622706	0.97[ASN][1000 genomes]
rs2622707	0.97[ASN][1000 genomes]
rs2622709	0.94[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2622710	0.94[ASN][1000 genomes]
rs2622711	0.94[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2622714	0.93[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2622715	0.90[ASN][1000 genomes]
rs2622716	0.90[ASN][1000 genomes]
rs2622717	0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs2622718	0.90[ASN][1000 genomes]
rs2622719	0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2622720	0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2622724	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2622725	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2622726	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2622727	0.89[ASN][1000 genomes]
rs2622728	0.89[ASN][1000 genomes]
rs2622729	0.89[ASN][1000 genomes]
rs2622730	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2622745	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2622746	0.82[ASN][1000 genomes]
rs2724687	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs2724693	0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2724694	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2724695	0.89[ASN][1000 genomes]
rs2724697	0.94[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2724698	0.97[ASN][1000 genomes]
rs2724699	0.97[ASN][1000 genomes]
rs2724700	0.97[ASN][1000 genomes]
rs2724701	0.97[ASN][1000 genomes]
rs2724702	0.97[ASN][1000 genomes]
rs2724703	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2724704	0.97[ASN][1000 genomes]
rs2724705	0.94[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2724706	0.94[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs2724707	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2724708	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2724713	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2724716	0.89[ASN][1000 genomes]
rs2724717	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2724720	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2724721	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2724722	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2724723	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2724729	0.80[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs28480035	0.85[ASN][1000 genomes]
rs329381	0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs329382	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs329383	0.88[ASN][1000 genomes]
rs329384	0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs329385	0.89[ASN][1000 genomes]
rs329388	0.88[CHB][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs329389	0.82[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs329390	0.82[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs329391	0.82[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs367439	0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs374045	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs382629	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384828	0.94[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs389697	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs390729	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs405265	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs405517	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs405602	0.94[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs407009	0.97[ASN][1000 genomes]
rs419075	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs425938	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs436145	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs442800	0.94[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs445025	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446644	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs452195	0.97[ASN][1000 genomes]
rs453023	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4678403	0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs618553	0.94[ASN][1000 genomes]
rs6809258	0.88[ASN][1000 genomes]
rs7613955	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7629243	0.94[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs7639197	0.90[ASN][1000 genomes]
rs899983	0.94[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs9812778	0.81[ASN][1000 genomes]
rs9814877	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9834462	0.82[ASN][1000 genomes]
rs9834670	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9842648	0.81[ASN][1000 genomes]
rs9842918	0.84[ASN][1000 genomes]
rs9857908	0.80[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs9860229	0.82[ASN][1000 genomes]
rs996432	0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2757890	chr3:137611789-137933835	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2759180	chr3:137611789-137933835	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2751978	chr3:137715302-137890750	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1007857	chr3:137767454-137843106	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1008563	chr3:137776151-137801394	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1002136	chr3:137776151-137806500	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv519971	chr3:137782655-137801213	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv522591	chr3:137782655-137801213	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137744400-137792000	Weak transcription	Fetal Kidney	kidney
2	chr3:137763000-137797600	Weak transcription	Hela-S3	cervix
3	chr3:137767200-137791800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr3:137768200-137787600	Weak transcription	A549	lung
5	chr3:137772800-137792200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:137777800-137790000	Weak transcription	Brain Germinal Matrix	brain
7	chr3:137778200-137800600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:137778400-137787400	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:137778600-137787600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:137778800-137800400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:137779200-137792400	Strong transcription	Fetal Stomach	stomach
12	chr3:137779600-137787600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:137779800-137787400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr3:137779800-137787600	Strong transcription	Adipose Nuclei	Adipose
15	chr3:137780000-137787200	Strong transcription	Aorta	Aorta
16	chr3:137780000-137792600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:137780000-137792600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr3:137780000-137797600	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr3:137780000-137813400	Weak transcription	HUVEC	blood vessel
20	chr3:137780200-137786400	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:137780200-137787600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:137780400-137786600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:137780400-137787200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:137780400-137787400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:137780400-137787600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:137780400-137792400	Strong transcription	Stomach Smooth Muscle	stomach
27	chr3:137780600-137786200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr3:137780600-137787200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr3:137780600-137787400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr3:137780600-137788000	Strong transcription	Fetal Muscle Leg	muscle
31	chr3:137780600-137791600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:137780600-137811600	Weak transcription	Psoas Muscle	Psoas
33	chr3:137780800-137800600	Weak transcription	Brain Hippocampus Middle	brain
34	chr3:137781000-137786400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:137781000-137786600	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr3:137781000-137833200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr3:137781200-137787600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr3:137781400-137796600	Weak transcription	NHEK	skin
39	chr3:137781600-137786200	Strong transcription	HMEC	breast
40	chr3:137781800-137787200	Strong transcription	Lung	lung
41	chr3:137781800-137791000	Strong transcription	NHLF	lung
42	chr3:137781800-137796200	Weak transcription	Fetal Heart	heart
43	chr3:137782000-137787400	Strong transcription	NH-A	brain
44	chr3:137782000-137787800	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr3:137782000-137789800	Strong transcription	HSMM	muscle
46	chr3:137782000-137790600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:137782000-137790800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:137782000-137791400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr3:137782200-137787200	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr3:137782200-137787600	Strong transcription	Osteobl	bone

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